Nanopore Digest: Cell-free DNA sequencing and methylation calling for non-invasive cancer detection

Detecting cell-of-origin and cancer-specific methylation features of cell-free DNA from nanopore sequencing

Here Katsman et al. show that cell-free DNA can be used to detect cell-type specific and cancer-specific methylation changes, as well as cancer-associated fragmentation signatures, using shallow Oxford Nanopore whole-genome sequencing (WGS) of liquid biopsies. Discussing the platform’s potential, they state that ‘the simplicity of native [nanopore] sequencing and the number of features that can be extracted from a single run, combined with the low cost and portability of [the] sequencer, make it an interesting proposition for clinical settings’.